Canonical Allele Identifier: CA439245912
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408922A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406905A>G , CM000666.2:g.47406905A>G GRCh38
NC_000004.11:g.47408922A>G , CM000666.1:g.47408922A>G GRCh37
NC_000004.10:g.47103679A>G NCBI36
NG_051831.1:g.380628A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1059A>G MANE Select ENSP00000295454.3:p.Lys353=
ENST00000295454.7:c.1059A>G ENSP00000295454.3:p.Lys353=
NM_000812.3:c.1059A>G NP_000803.2:p.Lys353=
XM_011513678.1:c.1038A>G XP_011511980.1:p.Lys346=
XM_017007985.1:c.408A>G XP_016863474.1:p.Lys136=
XM_024453976.1:c.960A>G XP_024309744.1:p.Lys320=
XM_024453977.1:c.960A>G XP_024309745.1:p.Lys320=
XM_024453978.1:c.960A>G XP_024309746.1:p.Lys320=
NM_000812.4:c.1059A>G MANE Select NP_000803.2:p.Lys353=